Canonical Allele Identifier: CA433886153
Gene: BAP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.52436430C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52402414C>A , CM000665.2:g.52402414C>A GRCh38
NC_000003.11:g.52436430C>A , CM000665.1:g.52436430C>A GRCh37
NC_000003.10:g.52411470C>A NCBI36
NG_031859.1:g.12580G>T , LRG_529:g.12580G>T
NG_052911.1:g.91096C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000460680.6:c.2064G>T MANE Select ENSP00000417132.1:p.Leu688=
ENST00000296288.9:c.2010G>T ENSP00000296288.5:p.Leu670=
ENST00000460680.5:c.2064G>T ENSP00000417132.1:p.Leu688=
ENST00000466093.1:n.737G>T
ENST00000469613.5:c.263G>T
ENST00000478368.1:c.636G>T ENSP00000420647.1:p.Leu212=
NM_004656.3:c.2064G>T NP_004647.1:p.Leu688=
XM_011534149.1:c.2133G>T XP_011532451.1:p.Leu711=
XM_011534150.1:c.2088G>T XP_011532452.1:p.Leu696=
XM_011534151.1:c.2079G>T XP_011532453.1:p.Leu693=
XM_011534152.1:c.2019G>T XP_011532454.1:p.Leu673=
XM_011534149.3:c.2133G>T XP_011532451.1:p.Leu711=
XM_011534150.3:c.2088G>T XP_011532452.1:p.Leu696=
XM_011534151.3:c.2079G>T XP_011532453.1:p.Leu693=
XM_011534152.2:c.2019G>T XP_011532454.1:p.Leu673=
XM_017007303.2:c.2010G>T XP_016862792.1:p.Leu670=
NM_004656.4:c.2064G>T MANE Select NP_004647.1:p.Leu688=